Canonical Allele Identifier: CA367401366
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 585923
ClinVar RCV Id: RCV000711780 RCV002352232 RCV002499286 RCV003155293
dbSNP Id: rs1562717053
MyVariant Identifiers: chr7:g.44189430A>G (hg19) chr7:g.44149831A>G (hg38)
ERepo: CA367401366/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149831A>G , CM000669.2:g.44149831A>G GRCh38
NC_000007.13:g.44189430A>G , CM000669.1:g.44189430A>G GRCh37
NC_000007.12:g.44155955A>G NCBI36
NG_008847.1:g.44593T>C
NG_008847.2:g.53340T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*606T>C ENSP00000379142.4:n.*606T>C
ENST00000616242.5:c.608T>C ENSP00000482149.2:p.Val203Ala
ENST00000682635.1:n.1094T>C
ENST00000345378.7:c.611T>C ENSP00000223366.2:p.Val204Ala
ENST00000403799.8:c.608T>C MANE Select ENSP00000384247.3:p.Val203Ala
ENST00000671824.1:c.608T>C ENSP00000500264.1:p.Val203Ala
ENST00000673284.1:c.608T>C ENSP00000499852.1:p.Val203Ala
ENST00000345378.6:c.611T>C ENSP00000223366.2:p.Val204Ala
ENST00000395796.7:c.605T>C ENSP00000379142.3:p.Val202Ala
ENST00000403799.7:c.608T>C ENSP00000384247.3:p.Val203Ala
ENST00000437084.1:c.557T>C ENSP00000402840.1:p.Val186Ala
ENST00000616242.4:c.605T>C ENSP00000482149.1:p.Val202Ala
NM_000162.3:c.608T>C NP_000153.1:p.Val203Ala
NM_033507.1:c.611T>C NP_277042.1:p.Val204Ala
NM_033508.1:c.605T>C NP_277043.1:p.Val202Ala
NM_000162.4:c.608T>C NP_000153.1:p.Val203Ala
NM_001354800.1:c.608T>C NP_001341729.1:p.Val203Ala
NM_033507.2:c.611T>C NP_277042.1:p.Val204Ala
NM_033508.2:c.605T>C NP_277043.1:p.Val202Ala
NM_000162.5:c.608T>C MANE Select NP_000153.1:p.Val203Ala
NM_033507.3:c.611T>C NP_277042.1:p.Val204Ala
NM_033508.3:c.605T>C NP_277043.1:p.Val202Ala
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